Navi Mumbai Institute of Research In Mental And Neurological Handicap Dr. Anil B. Jalan, MD DCH MCPS With effect from 1 st April 2010 (Revised).

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1 A brief introduction to NIRMAN and our team:- Navi Mumbai Institute of Research In Mental And Neurological Handicap was established in Navi Mumbai on 15 th Dec under the leadership of Dr. Anil B. Jalan (MD, DCH, and MCPS). Dr. Jalan passed MD in Paediatrics from Mumbai University in He developed interest in genetics and Metabolic disorders while working in PRL of KEM hospital Mumbai during post graduation and later on received basic training in Metabolic disorders at CDFD Hyderabad. Thereafter Dr. Jalan has regularly attended specialized training programmes at various European universities. Over a period of 10 years he has diagnosed and managed more than 7,000 children with various metabolic, genetic and neurological disorders. Details of his training programme are as follows:- Name of the Course Academy 1 1 st focused course on Congenital Disorders of University of Catania, Catania, Italy April Glycosylation 2 Training in Basic and advanced Laboratory. AKH Kinder Klinik, University of Vienna, Austria Nov Technologies and Newborn screening 3 2 nd Focused course on Paroxysmal Disorders Orphan Europe Academy, AMC, Univ. of Aug Amsterdam, Netherlands. 4 Clinical and Laboratory aspects of Neuro-metabolic Paed. Neurology Laboratory, Radboud University, Sept disorders Nijmegen, Netherlands 5 Hands on training on GC-MS and Tandem Mass AKH Kinder Klinik, University of Vienna, Austria Sept Spectrometry 6 Hands on Training on Laboratoryoratory aspects of LKH University, Graz, Austria Oct 2005 Lysosomal storage Disorders 7 Focused course on Mitochondriopathies Orphan Europe Academy Radboud University June 2006 Nijmegen, Netherlands 8 Molecular Diagnosis of IEM and Cystic Fibrosis AKH Kinder Klinik, University of Vienna, Austria July Focused course on Paediatric Movement Disorders Orphan Europe Academy Barcelona, Spain June

2 10 Molecular Diagnosis in IEM Advanced AKH Kinder Klinik, University of Vienna, Austria June 2007 Techniques 11 Molecular Diagnosis of Wilson s disease and AKH Int. Medicine Dept, Dr. Peter Ferenci s Sept Hemochromatosis Laboratory 12 Biochemical Diagnosis of MPS, Iso Electric LKH Medical University of Graz, Austria May 2009 Focusing and Real Time PCR 13 Molecular Diagnosis of Infectious Diseases LKH Medical University of Graz, Austria May Metabolic Disorders in Newborns Charles University Prague, Czech Republic Oct Gas Chromatography and TMS Cento-Gene Vienna Biocenter May 2010 In the lab he has team of Jr and Senior research officers:- 1. Ms. Ketki Kudalkar M.Sc. Biotechnology ( PhD student ) : Sr. Research Officer 2. Mr. Mahendra Parab M.Sc. Biotechnology : Jr. Research Officer 3. Mr. Rishikesh Jalan M.Sc. Biotech & Life Sceinces : Trainee Research officer ( Trained at Graz & Vienna ) 4. Mrs. Nutan Shirsat (Telawane) : Lab Supervisor ( Trained in Vienna NBS Lab ) We had QC / PA (Quality Control and Performance Analysis) Certification from CDC (US Gov) for last 8 years consecutively. We are member of following professional bodies:- 1. SSIEM : Society for Study in Inborn Error of Metabolism 2. SIMD : Society for Inborn Metabolic Defects 3. ESGH : European Society of Human genetics 4. ISGS : Indian Society for Genetic Screening 5. ISPAT : Indian Society for Prenatal Diagnosis and Therapy 2

3 DNA studies performed in our Lab. DNA studies Lab Charges Patient Charges A DNA MTHFR ( 2 Mutations ) 2 weeks B Fragile X by Methylation Specific PCR 3 4 weeks C Prader Willi Syndrome / 3 4 weeks Angelman Syndrome Methylation Specific PCR D Hemochromatosis Adult type 3 4 weeks E MECP2 Gene Sequencing 6 8 wks. There are more than 1000 different DNA studies available through our international collaborators. Charges for the test :- 1. Actual Charges % TDS + 3. Foreign Exchange remittance charges ( Bank Charges ) 4. DNA Extraction Charges + 5. Courier Charges + 6. Service charges Rs. 5,000/- per person. DNA Extraction Charges Per vial (300 ul of blood by Pure gene kit) or 1.5 ml Blood By Chemical method 3

4 DNA Chip Microarray Lab Charges DNA Chip Molecular Cytogenetics CGH Array A Neurological Cases with Dysmorphic Features Screens 1500 Gene s B Autism Chip C Prenatal Diagnosis CVBx or Abortus material D Other chips available are Ashkenazi jew, Retinitis Pigmentosa ( AR ), RP ( AD ), USHER Syndrome, Congenital Deafness etc. Pt Charges Please see the details on our website 4

5 DNA Tests for Various Disorders available through our International Collaborations 1 Metabolic Gene 1 2,4 DienoylCoA Reductase Deficiency DECR1 2 3Hydroxy3MethylglutarylCoA Lyase Deficiency (HMG) HMGCL 3 3Hydroxyacyl CoA Dehydrogenase Deficiency HADH 4 3Methylcrontonyl CoA Carboxylase Deficiency (3MMC) MCCC1 5 Adrenogenital Syndrom (CYP21A2) ( CAH ) CYP21A2 6 Alpha1AntitrypsinDeficiency (SERPINA 1) SERPINA1 7 AlphaMannosidosis (Mannosidase Def. MAN2B1) MAN2B1 8 ApolipoproteinE Deficiency (APOE) APOE 9 Arginine:GlycinAmidinotransferase Deficiency - (AGAT) AGAT 10 Argininosuccinic Aciduria ( ASL ) ( OMIM ) ASL 11 BetaMannosidose (Mannosidase Def. MANBA) MANBA 12 Biotinidase Deficiency (BTD) BTD 13 CarnitinePalmitoylTransferase Deficiency, Type II (CPT2) CPT2 14 CCL 18 [PARC] (Monitoring: Gaucher, Disease) 15 CeroidLipofuszinosen, neuronal, Type 2 (NCL2) - (TPP1) TPP1 16 CeroidLipofuszinosen, neuronal, Type 5 (NCL5) -(CLN5) CLN5 17 CeroidLipofuszinosen, neuronal, Type 6 (NCL6) -(CLN6) CLN6 18 CeroidLipofuszinosen, neuronal, Type 7 (NCL7) -(MFSD8) MFSD8 19 CeroidLipofuszinosen, neuronal, Type 8 (NCL8) -(CLN8) CLN8 20 Creatine Transporter Deficiency ( OMIM ) SLC6AB 21 Chitotriosidase (Monitoring: Gaucher, Morbus / genetics: Null Mutant ) 22 Cystinosis (CTNS) CTNS 23 Cystic Fibrosis (Mucoviscidosis) (CFTR) CFTR 24 Diabetes insipidus, nephrogenic, Xchromosomal - (AVPR2) AVPR2 5

6 25 Diabetes insipidus, nephrogenic, autosomal -(AQP2) AQP2 26 Epilepsy, PyridoxinDependency (EPD) (ALDH7A1) ALDH7A1 27 Fabry Disease (OMIM ) ( Galactosidase Def.) - (OMIM ) GLA 28 Farber s Disease (Saure Ceramidase Def. ASAH) ASAH 29 Fucosidosis (LFucosidase Def. FUCA1) FUCA1 30 Galactokinase Deficiency (GALK1) GALK1 31 Galactosemia (OMIM ) GALT 32 Galactose Epimerase Deficiency (GALE) GALE 33 Gaucher Disease, type I (OMIM ) GBA (OMIM ) GBA 34 Gaucher Disease, type II (OMIM ) GBA (OMIM ) GBA 35 Gaucher Disease, type III (OMIM ) GBA (OMIM ) GBA 36 Gaucher Disease, type IIIC (OMIM ) GBA (OMIM ) GBA 37 Gaucher Disease, perinatal lethal (OMIM ) GBA (OMIM ) GBA 38 Glucose6PhosphatDehydrogenase Deficiency ( without Spherocytosis ) G6PD 39 GlutarylCoenzyme A (CoA)Dehydrogenase Deficiency (GDD) (GCDH) GCDH 40 GSD Type 1A (vongierkekrankheit) - (G6PC) G6PC 41 GSD Type 1B (vongierkekrankheit) - (G6PT1) G6PT1 42 GSD Type 1C (vongierkekrankheit) - (G6PT1) G6PT1 43 GSD Type 2 (Pompe, Morbus) ( Glukosidase Def. GAA) GAA 44 GSD Type 3 (Cori oder Forbes Krankheit) (AGL) AGL 45 GSD Type 4 (AndersenKrankheit) (GBE1) GBE1 46 GSD Type 5 (McArdle, Morbus) (PYGM) PYGM 47 GSD Type 6A, auf Grund von PhosphorylaseKinase Defizienz (PHKA2) PHKA2 48 GSD Type 6B, auf Grund von hepatischer PhosphorylaseDefizienz (PYGL) PYGL 49 GSD Type 7 (TaruiKrankheit) (PFKM) PFKM 50 Congenital disorder of glycosylation, type Ia (CDG1A) (OMIM ) (OMIM ) PMM2 6

7 51 Congenital disorder of glycosylation, type Ib (CDG1B) (OMIM ) (OMIM ) MPI 52 Congenital disorder of glycosylation, Typ 1C (CDG1C) (ALG6) ALG6 53 Congenital disorder of glycosylation, Typ 1D (CDG1D) (ALG3) ALG3 54 Congenital disorder of glycosylation, Typ 1E (CDG1E) (DPM1) DPM1 55 Congenital disorder of glycosylation, Typ 1F (CDG1F) (MPDU1) MPDU1 56 Congenital disorder of glycosylation, Typ 1G (CDG1G) (ALG12) ALG12 57 Congenital disorder of glycosylation, Typ 1H (CDG1H) (ALG8) ALG8 58 Congenital disorder of glycosylation, Typ 1I (CDG1I) (ALG2) ALG2 59 Congenital disorder of glycosylation, Typ 1J (CDG1J) (DPAGT1) DPAGT1 60 Congenital disorder of glycosylation, Typ 1K (CDG1K) (ALG1) ALG1 61 Congenital disorder of glycosylation, Typ 1L (CDG1L) (ALG9) ALG9 62 Congenital disorder of glycosylation, Typ 1M (CDG1M) (TMEM15) TMEM15 63 Congenital disorder of glycosylation, Typ 1N (CDG1N) (RFT1) RFT1 64 Congenital disorder of glycosylation, Typ 2A (CDG2A) (MGAT2) MGAT2 65 Congenital disorder of glycosylation, Typ 2C (CDG2C) (SLC35C1) SLC35C1 66 Congenital disorder of glycosylation, Typ 2D (CDG2D) (B4GALT1) B4GALT1 67 Congenital disorder of glycosylation, Typ 2E (CDG2E) (COG7) COG7 68 Congenital disorder of glycosylation, Typ 2F (CDG2F) (SLC35A1) SLC35A1 69 Congenital disorder of glycosylation, Typ 2G (CDG2G) (COG1) COG1 70 Congenital disorder of glycosylation, Typ 2H (CDG2H) (COG8) COG8 71 GM1Gangliosidosis, type I (OMIM ) (Galaktosidase Def. GLB1) (OMIM ) GLB1 72 GM1Gangliosidosis, type II (OMIM ) (OMIM ) GLB1 73 GM1Gangliosidosis, type III (OMIM ) (OMIM ) GLB1 74 Guanidinoacetate Methyltransferase Defizienz (GAMT) GAMT 75 Hemochromatosis (HFE) HFE 76 Hemochromatosis, juvenile, Typ 2A (AR, HFE2A) (HJV) HJV 77 Hemochromatosis, juvenile, Typ 2B (AR, HFE2B) (HAMP) HAMP 7

8 78 Hemochromatosis, Typ 3 (AR, HFE3) (TFR2) TFR2 79 Hemochromatosis, Typ 4 (AD, HFE4) (SLC40A1) SLC40A1 80 HartnupSyndrom (SLC6A19) SLC6A19 81 Hypercholesterolemia, familiär, auf Grund eines Defektes im LDLRezeptor (LDLR) LDLR 82 Hypercholesterolemia, AD, Typ 3 (HCHOLA3) (PCSK9) PCSK9 83 Hypercholesterolemia, AD, Typ B (APOB) APOB 84 Hypercholesterolemia, AR (ARH) ARH 85 Hyperoxaluria Typ 1 (AGXT) AGXT 86 Hyperoxaluria Typ 2 (GRHPR) GRHPR 87 Hyper-phenylalaninemia ( PKU ) PAH ( OMIM ) PAH 88 Hyper-phenylalaninemia ( PKU ) PAH ( OMIM ) Exon deletion studies by MLPA PAH 89 Hyper-phenylalaninemia GTP Cyclohydrolase 1 Def. ( OMIM ) GCH1 90 Hyper-phenylalaninemia, 6 Synthase Def. ( PTS ) (OMIM ) PTPS 91 Hyper-phenylalaninemia Dihydropteridine Reductase Deficiency (DHPR ) ( OMIM ) QDPR 92 Hyper-phenylalaninemia Sepiapterin Reductase deficiency ( SPR ) ( OMIM ) SPR 93 Iso Valeric Acidemia (IVA) (IVD) IVD 94 Ketoacidosis due to betaketothiolasedezienz (ACAT1) ACAT1 95 Krabbe Disease (OMIM ) (Galactocerebrosidase Def.) (OMIM ) GALC 96 Kreatin ( Creatine )TransporterDefect (SLC6A8) SLC6A8 97 Kurzketten ( Short Chain ) AcylCoADehydrogenaseDeficiency (SCAD) (ACADS) ACADS 98 Lipodystrophy, congenital generalised, Typ 1 (BerardinelliSeip; CGL1) (AGPAT2) AGPAT2 99 Lipodystrophy, congenital generalised, type 2 (CGL2) (OMIM ) (OMIM ) BSCL2 100 MannoseBinding Protein Dezienz (MBL2) MBL2 101 Maple Syrup urine Disease ( MSUD ) BCKDHA ( OMIM ) BCKDHA 102 Maple Syrup urine Disease ( MSUD ) BCKDHB ( OMIM ) BCKDHB 103 Maple Syrup urine Disease ( MSUD ) DBT ( OMIM ) DBT 104 Maple Syrup urine Disease ( MSUD ) DLD ( OMIM ) DLD 8

9 105 McArdle Dis Glycogen Storage Dis Typ V (PYGM) PYGM 106 Metachromatic Leukodystrophy (MLD) (Arylsulphatase A Def. ARSA) ARSA 107 Methylmalonic acidemia, VitaminB12sensible Form, Typ cbl A (MMAA) ( OMIM ) MMAA 108 Methylmalonic acidemia, Type cbl B (MMAB) ( OMIM ) MMAB 109 Methylmalonic aciduria Homocystinuria, Typ cbl C (MMACHC) MMACHC 110 Methylmalonic aciduria Homocystinuria, Typ cbl D (C2ORF25) C2ORF Methylmalonic aciduria, MethylmalonylCoAMutaseDeficiency (MUT) ( OMIM ) MUT Methylglutaconic Aciduria Type I ( OMIM ) AUH Methylglutaconic Aciduria Type III ( OMIM ) OPA3 114 Mittelketten ( Medium Chain )AcylCoADehydrogenaseDezienz (MCAD) (ACADM) ACADM 115 Mediterranean Fever - familial (MEFV) MEFV 116 MODY Syndrom Typ 1 (HNF4A) HNF4A 117 MODY Syndrom Typ 2 (GCK) GCK 118 MODY Syndrom Typ 3 (HNF1A) HNF1A 119 MODY Syndrom Typ 5 (HNF1B) HNF1B 120 Mucolipidosis Typ 2, IZellkrankheit (GNPTAB) GNPTAB 121 Mucolipidosis Typ 3, Alpha/Beta (GNPTAB) GNPTAB 122 Mucolipidosis Typ 4 (MCOLN1) MCOLN1 123 Mucopolysaccharidose Typ 1 (MPS I, Hurler/ScheieKrankheit) (LIduronidase Def.IDUA) IDUA 124 Mucopolysaccharidose Typ 2 (MPS II, HunterKrankheit) (Iduronate 2Sulphatase Def. IDS) IDS 125 Mucopolysaccharidose Typ 3a (MPS IIIa, Sanlippo Syndrom A) SGSH (NSulphoglukosamineSulphohydrolase Def. SGSH) 126 Mucopolysaccharidose Typ 3b (MPS IIIb,Sanlippo Syndrom B) (Nacetylglukosaminidase Def. NAGLU NAGLU) 127 Mucopolysaccharidose Typ 3c (MPS IIIc, Sanlippo Syndrom C) HGSNAT (HeparanGlukosaminideNAcetyltransferase Def. HGSNAT) 128 Mucopolysaccharidose Typ 3d (MPS IIId, Sanlippo Syndrom D) (NAcetylglukosamine6Sulphatase GNA 9

10 Def. GNA) 129 Mucopolysaccharidose Typ 4a (MPS IVa, Morquio Syndrom A) (Galaktosamine6Sulphate GALNS Sulphatase Def. GALNS) 130 Morquio syndrome B (OMIM ) (GalaktosidaseDef. GLB1) (OMIM ) GLB1 131 Mucopolysaccharidose Typ 6 (MPS VI, MaroteauxLamy Syndrom) (Arylsulphatase B Def. ARSB) ARSB 132 Mucopolysaccharidose Typ 7 (MPS VII, Sly Syndrom) (Glukuronidase Def. GUSB) GUSB 133 Mucopolysaccharidose Typ 9 (MPS IX) (HYAL1) HYAL1 134 Multiple AcylCoADehydrogenaseDeficiency (MADD) (ETFA) ETFA 135 MultipleSulfataseDeficiency (MSD) (SUMF1) SUMF1 136 NiemannPick Disease, type A (OMIM ),type B (OMIM ) (Sphingomyelinase SMPD1 Def.SMPD1) (OMIM ) 137 NiemannPick Disease, type C1 (NPC1) (OMIM ) (Filipin Test only in Fibroblasts) (OMIM NPC ) 138 NiemannPick Disease, type C2 (OMIM ) (Filipin Test only in Fibroblasts) (OMIM ) NPC2 139 Non Ketotic Hyperglycinemia ( HGNK ) GLDC ( OMIM ) GLDC 140 Non Ketotic Hyperglycinemia ( HGNK ) AMT ( OMIM ) AMT 141 Ornithine Transcarbamylase Deficiency ( OTC ) ( OMIM ) OTC 142 Pompe s Disease, GSD Type II ( Glukosidase Def. GAA) GAA 143 Porphyria, acute intermittent (AIP) (HMBS) HMBS 144 Propionic Acidemia (PA) (PCCA, PCCB) PCCA + PCCB 145 Propionic Acidemia (PA) (PCCA) PCCA 146 Propionic Acidemia (PA) (PCCB) PCCB 147 Propionic Acidemia ( PCCA ) Identification of Exonic deletion by MLPA PCCA 148 ProsaposinDefect (PSAP) PSAP 149 Pyruvate kinase deficiency with hemolytic anemia (OMIM ) (OMIM ) PKLR 150 Refsum Syndrom (PEX7, PHYH) PEX7, PHYH 151 Refsum Syndrom (PEX7) PEX7 10

11 152 Refsum Syndrom (PHYH) PHYH 153 Sandhoff s Disease GM2Gangliosidose (HexosaminidaseA+BDef. HEXB) HEXB 154 Schindler Disease ( Nacetylgalaktosaminidase Def. NAGA) NAGA 155 Sehrlangkettige ( Very Long Chain ) AcylCoADehydrogenase Dezienz (VLCAD) (ACADVL) ACADVL 156 TaySachs, Morbus, AB Variante (GM2A) GM2A 157 TaySachs Disease (TSD) (OMIM )(HexosaminidaseADef. HEXA)(OMIM ) HEXA 158 Tyrosinemia Type I ( FAH ) ( OMIM ) FAH 159 Wilson s Disease Morbus (ATP7B) ATP7B 160 Wolman Disease (LIPA) LIPA 2 Neurological disease 2.1 Hereditary spastic paraplegia (HSP) Xchromosomale SPG`s 1 SPG1 (MASASyndrom) (L1CAM) L1CAM 2 SPG2 (PLP1) PLP Autosomal dominate SPG`s 1 SPG3A (Atlastin SPG3A) Atlastin SPG3A 2 Spastic paraplegia 4, autosomal dominant (SPG4) (OMIM )(OMIM ) SPG4 3 SPG6 (NIPA1) NIPA1 4 SPG8 (KIAA0196) KIAA SPG10 (KIF5A) KIF5A 6 Spastic paraplegia 13, autosomal dominant (SPG13) (OMIM )(OMIM ) HSPD1 7 Leukodystrophy, hypomyelinating, 4 (OMIM )(OMIM ) HSPD1 8 Spastic paraplegia 17 (SPG17) (OMIM ) (OMIM ) BSCL2 9 SPG20 (Spartin SPG20) Spartin SPG20 10 SPG21 (MAST Syndrom) (ACP33) ACP Hereditary polyneuropathy (CMT) 1 CMT1Screening PMP22 (OMIM ), MPZ (OMIM ), LITAF (OMIM ), EGR2 PMP22, MPZ, LITAF, 11

12 (OMIM ), NEFL (OMIM ) EGR2,NEFL 2 CharcotMarieTooth Disease, type 1A (CMT1A) (OMIM ) (Seq. + MLPA) (OMIM ) PMP22 3 CharcotMarieTooth Disease, type 1A (CMT1A) (OMIM ) (MLPA) (OMIM ) PMP22 4 CharcotMarieTooth Disease, type 1A (CMT1A) (OMIM ) (Seq.)(OMIM ) PMP22 5 CharcotMarieTooth Disease, type 1B (CMT1B) (OMIM ) (OMIM ) MPZ 6 CharcotMarieTooth Disease, type 1C (CMT1C) (OMIM ) (OMIM ) LITAF 7 CharcotMarieTooth Disease, type 1D (CMT1D) (OMIM ) (OMIM ) EGR2 8 CharcotMarieTooth Disease, type 1F (OMIM ) (OMIM ) NEFL 9 Neuropathy, hereditary, with liability to pressure palsies (HNPP) (OMIM ) (OMIM ) 10 CMT2Screening (KIF1B, MFN2, RAB7, LMNA,GARS, NEFL, HSPB1, MPZ, GDAP1, HSPB8,GJB1)KIF1B, MFN2 (OMIM ) 11 CMT2A1 (KIF1B) RAB7,LMNA, GARS (OMIM ), NEFL (OMIM ), HSPB1 (OMIM ), MPZ (OMIM ), GDAP1, HSPB8, GJB1 KIF1B 12 CharcotMarieTooth Disease, type 2A2 (CMT2A2) (OMIM ) (Seq. + MLPA)MFN2 (OMIM ) 13 CharcotMarieTooth Disease, type 2A2 (CMT2A2) (OMIM ) (MLPA) (OMIM ) MFN2 14 CharcotMarieTooth Disease, type 2A2 (CMT2A2) (OMIM ) (Seq.) (OMIM ) MFN2 15 CharcotMarieTooth Disease, type 6 (CMT6) (OMIM ) (Seq.) (OMIM ) MFN2 16 CMT2B (RAB7) RAB7 17 CMT2B1 (LMNA) LMNA 18 CharcotMarieTooth Disease, type 2D (CMT2D) (OMIM ) (OMIM ) GARS 19 CharcotMarieTooth Disease, type 2E (OMIM ) (OMIM ) NEFL 20 CharcotMarieTooth Disease, type 2F (CMT2F)(OMIM ) (OMIM ) HSPB1 21 CharcotMarieTooth Disease, type 2I (CMT2I)(OMIM ), type 2J (CMT2J) (OMIM ) (Seq. + MLPA) MPZ (OMIM ) 22 CharcotMarieTooth Disease, type 2I (CMT2I)(OMIM ), type 2J (CMT2J) (OMIM ) 12

13 (MLPA) MPZ (OMIM ) 23 CharcotMarieTooth Disease, type 2I (CMT2I)(OMIM ), type 2J (CMT2J) (OMIM ) (Seq.) MPZ (OMIM ) 24 CMT2K (GDAP1) GDAP1 25 CMT2L (HSPB8) HSPB8 26 DejerineSottas Syndrome (DSS) (OMIM )CMT3/CMT4F: MPZ (OMIM ),PMP22 (OMIM ), PRX, EGR2 (OMIM ),GJB1 27 CMT4 CMT4A (GDAP1) GDAP1 28 CMT4B1 (MTMR2) MTMR2 29 CMT4B2 (SBF2) SBF2 30 CMT4C (SH3TC2) SH3TC2 31 CMT4C1 (LMNA) LMNA 32 CMT4C4 (GDAP1) GDAP1 33 CMT4D (NDRG1) NDRG1 34 CharcotMarieTooth Disease, type 4E (CMT4E)(OMIM )EGR2 (OMIM ) 35 CharcotMarieTooth Disease, type 4E (CMT4E)(OMIM ) (Seq. + MLPA) MPZ (OMIM ) 36 CMT4F (PRX) PRX 37 CMT4H (FGD4) FGD4 38 CMT4J (FIG4) FIG4 Autonomic Neuropathies 1 HSAN1 (SPTLC1) SPTLC1 2 HSAN2 (HSN2) HSN2 3 HSAN3 (IKBKAP) IKBKAP 4 HSAN4 (NTRK1) NTRK1 5 HSAN5 (NGFB; NTRK1) NGFB; NTRK1 6 HSAN5 (NGFB) NGFB 13

14 7 HSAN5 (NTRK1) NTRK1 8 Minifaszikuläre Neuropathie mit 46, XY partieller Gonadendysgenesie (DHH) DHH Rein motorische Neuropathie 1 Neuropathie, distal kongenital (AR, DSMA4) (PLEKHG5) PLEKHG5 2 Neuropathie, distal betont, rein motorisch, Typ 2A (AD, HMN2A) (HSPB8) HSPB8 3 Neuronopathy, distal hereditary motor, type IIB (HMN2B) (OMIM )(OMIM ) HSPB1 4 Neuronopathy, distal hereditary motor, type V (HMN5) (OMIM ) (OMIM ) GARS 5 Neuropathie, distal betont, rein motorisch, Typ 6 (HMN6) (IGHMBP2) IGHMBP2 6 Neuropathie, distal betont, rein motorisch, Typ 7B (HMN7B) (DCTN1) DCTN1 7 Sonstiges Andermann Syndrom (ACCPN) (SLC12A6) SLC12A6 8 CMTX1 (GJB1) GJB1 9 CMTX5 (PRPS1) PRPS1 10 CharcotMarieTooth Disease, dominant intermediate D (OMIM ) (OMIM ) MPZ 11 DICMTB (DNM2) DNM2 12 DICMTC (YARS) YARS 13 Giant Axonal Neuropathie (GAN) GAN 14 Hereditäre neuralgische Amyotrophie (HNA) (SEPT9) Sep Katarakte, kongenitale facial Dysmorphien Neuropathie (CCFDN) (CTDP1) CTDP1 16 Refsum Syndrom (PEX7, PHYH) PEX7, PHYH 17 Refsum Syndrom (PEX7) PEX7 18 Refsum Syndrom (PHYH) PHYH 19 Slowed Nerve Conduction Velocity (slow NCV; AD) (ARHGEF10) ARHGEF Vascular diseases 1 AntithrombinDefizienz, kongenital (AT3) AT3 2 CADASIL (OMIM ) (OMIM ) NOTCH3 3 Fabry Disease (OMIM ) (Genetic) * ( Galactosidase A) (OMIM ) GLA 4 Faktor IIDefizienz, kongenital (F2) F2 14

15 5 Faktor VDefizienz [R506Q] (F5) F5 6 Glycoprotein 1ADefizienz (ITGA2) ITGA2 7 Methylcobalamine deficiency, cblg Type (OMIM )(OMIM ) MTR 8 Homocystinuria (Cystathionine betasynthase, CBS) CBS 9 Homocystinuria due to Methylen TetrahydrofolatReductaseDefizienz (MTHFR) MTHFR 10 Mitochondrial Myopathie Lactic acidosis (MELAS)MTND1, MTND5,MTND6, MTTL1,MTTQ, MTTS1,MTTK, MTTS2, MTTH 11 PlasminogenActivatorInhibitor1Deficiency, Congenital (PAI1) PAI1 12 ProteinC Deficiency, Congenital (PROC) PROC 13 ProteinS Deficiency, Congenital (PROS1) PROS nonataxic movement disorder Dystonia 1 Dystonia 1, Torsion, autosomal dominant (DYT1) (OMIM ), (OMIM ) Exon 5 TOR1A 2 Dystonia 1, Torsion, autosomal dominant (DYT1) (OMIM ), (OMIM ) Complete TOR1A 3 Doparesponsive Dystonia, autosomal dominant (DYT5A) (OMIM ) (OMIM ) GCH1 4 Doparesponsive Dystonia, autosomal recessive (DYT5B) (OMIM ) TH 5 Dystonia 6, Torsion (Dyt6) (OMIM ) (OMIM ) THAP1 6 DYT8 Dystonie 8 (MR1) MR1 7 Dystonia 11 (DYT11) (OMIM ) (OMIM ) SGCE 8 DYT12 (ATP1A3) ATP1A3 9 Dystonia 16 (DYT16) (OMIM )(OMIM ) PRKRA 10 Dystonia 18 (DYT18) (OMIM )(OMIM ) SLC2A Parkinson 1 Parkinson Disease, familial, type 1 (PARK1)(OMIM )(OMIM ) SNCA 2 Parkinson Disease 4, autosomal dominant Lewy Body (PARK4) (OMIM )(OMIM ) SNCA 3 Parkinson Disease 2, autosomal recessive juvenile (PARK2) (OMIM )(OMIM ) PARK2 4 Parkinson Disease 6, autosomal recessive earlyonset (PARK6) (OMIM )(OMIM ) PINK1 15

16 5 Parkinson Disease 7, autosomal recessive earlyonset (PARK7) (OMIM ) (OMIM ) DJ1 6 Parkinson PARK8 (LRRK2) LRRK2 7 Parkinson PARK9 (ATP13A2) ATP13A2 8 Parkinson PARK14 (PLA2G6) PLA2G6 9 Parkinson PARK15 (FBXO7) FBXO Sonstiges 1 Glucose transport defect, bloodbrain barrier (OMIM )(OMIM ) SLC2A1 2 HallervordenSpatzKrankheit (PKAN) (PANK2) PANK2 3 TouretteSyndrom (SLITRK1, DRD2, SLC6A4, HTR2A, TH) SLITRK1, DRD2, SLC6A4, HTR2A, TH 4 Tourette syndrome (TS) (OMIM ) (OMIM ) SLITRK1 5 TouretteSyndrom (DRD2) DRD2 6 TouretteSyndrom (SLC6A4) SLC6A4 7 TouretteSyndrom (HTR2A) HTR2A 8 TouretteSyndrom (TH) TH 9 Wilson, Morbus (ATP7B) ATP7B 2.5. Ataxia and trinucleotide disease 1 ArtsSyndrom (PRPS1) PRPS1 2 Ataxia with oculomotor Apraxia 1 (AOA1)(APTX) APTX 3 Ataxie mit okulomotorischer Apraxie 2 (AOA2)(SETX) SETX 4 AtaxiaTeleangiectasia (ATM) ATM 5 Chorea Huntington (HD) HD 6 Chorea Huntington like1 (PRNP) PRNP 7 Chorea Huntington like2 (JPH3) JPH3 8 Denatorubropallidoluysiale Atrophie (DRPLA)(ATN1) ATN1 9 Episodic Ataxia, Type 2 (EA2) (OMIM )(OMIM ) CACNA1A 10 Familial Hemiplegic Migraine 1 (FHM1) (OMIM )(OMIM ) CACNA1A 11 Friedreich sche Ataxie (FRDA) (FXN) (FL) FXN 16

17 12 Friedreich sche Ataxie (FRDA) (FXN) (Seq.) FXN 13 Kennedy, Morbus (SBMA) (AR) (FL) AR 14 Myotone Dystrophie 1 (DM1) (DMPK) (FL) DMPK 15 Myotone Dystrophie 2 (PROMM / DM2) (ZNF9)(FL) ZNF9 16 Myotone Dystrophie 2 (PROMM / DM2) (ZNF9)(Southern Blot) ZNF9 17 Spinozerebelläre Ataxie Typ 1 (SCA1) (ATXN1)(FL) ATXN1 18 Spinozerebelläre Ataxie Typ 2 (SCA2) (ATXN2)(FL) ATXN2 19 Spinozerebelläre Ataxie Typ 3 (SCA3) (ATXN3)(FL) ATXN3 20 Spinozerebelläre Ataxie Typ 4 (SCA4) (PLEKHG4) PLEKHG4 21 Spinozerebelläre Ataxie Typ 5 (SCA5) (SPTBN2) SPTBN2 22 Spinocerebellar Ataxia 6 (SCA6) (CACNA1A)(FL) (OMIM ) (OMIM ) CACNA1A 23 Spinozerebelläre Ataxie Typ 7 (SCA7) (ATXN7)(FL) ATXN7 24 Spinozerebelläre Ataxie Typ 8 (SCA8) (SCA8)(FL) SCA8 25 Spinozerebelläre Ataxie Typ 10 (SCA10)(ATXN10) (FL) ATXN10 26 Spinozerebelläre Ataxie Typ 11 (SCA11)(TTBK2) TTBK2 27 Spinozerebelläre Ataxie Typ 12 (SCA12)(PPP2R2B) (FL) PPP2R2B 28 Spinozerebelläre Ataxie Typ 13 (SCA13)(KCNC3) (Seq.) KCNC3 29 Spinozerebelläre Ataxie Typ 14 (SCA14)(PRKCG) PRKCG 30 Spinozerebelläre Ataxie Typ 17 (SCA17) (TBP)(FL) TBP 31 Spinozerebelläre Ataxie Typ 27 (SCA27)(FGF14) FGF14 32 All SCA by sequencing 2.6. Leukodystrophy and other CNS - disorders 1 AcylCoAOxydaseDefizienz (ACOX1) ACOX1 2 Adrenoleukodystrophie (XALD) (ABCD1) ABCD1 3 AicardiGoutièreSyndrom 1 (AGS1) (TREX1) TREX1 4 AicardiGoutièreSyndrom 2 (AGS2) (RNASEH2B) RNASEH2B 5 AicardiGoutièreSyndrom 3 (AGS3) (RNASEH2C) RNASEH2C 17

18 6 AicardiGoutièreSyndrom 4 (AGS4) (RNASEH2A) RNASEH2A 7 AicardiGoutièreSyndrom 5 (AGS5) (TREX1) TREX1 8 Alexander, Morbus (GFAP) GFAP 9 CADASIL (OMIM )(OMIM ) NOTCH3 10 Canavan, Morbus (ASPA) ASPA 11 Externe progressive Ophthalmoplegie 1 (POLG) POLG 12 Externe progressive Ophthalmoplegie 3 (C10ORF2) C10ORF2 13 Fukosidose* (LFukosidase Def. FUCA1) FUCA1 14 Giant Axonal Neuropathie (GAN) GAN 15 GM1Gangliosidosis, type I (OMIM )* ( Galaktosidase Def. GLB1)(OMIM ) GLB1 16 Congenital disorder of glycosylation, type Ia (CDG1A) (OMIM ) * (OMIM ) PMM2 17 Congenital disorder of glycosylation, type Ib (CDG1B) (OMIM ) (OMIM ) * MPI 18 Glykosylierungsdefekt, Typ 1C (CDG1C) (ALG6) * ALG6 19 Glykosylierungsdefekt, Typ 1D (CDG1D) (ALG3) * ALG3 20 Glykosylierungsdefekt, Typ 1E (CDG1E) (DPM1) * DPM1 21 Glykosylierungsdefekt, Typ 1F (CDG1F)(MPDU1) * MPDU1 22 Glykosylierungsdefekt, Typ 1G (CDG1G)(ALG12) * ALG12 23 Glykosylierungsdefekt, Typ 1H (CDG1H) (ALG8) * ALG8 24 Glykosylierungsdefekt, Typ 1I (CDG1I) (ALG2) * ALG2 25 Glykosylierungsdefekt, Typ 1J (CDG1J) (DPAGT1) * DPAGT1 26 Glykosylierungsdefekt, Typ 1K (CDG1K) (ALG1) * ALG1 27 Glykosylierungsdefekt, Typ 1L (CDG1L) (ALG9) * ALG9 28 Glykosylierungsdefekt, Typ 1M (CDG1M)(TMEM15) * TMEM15 29 Glykosylierungsdefekt, Typ 1N (CDG1N) (RFT1) * RFT1 30 Glykosylierungsdefekt, Typ 2A (CDG2A)(MGAT2) * MGAT2 31 Glykosylierungsdefekt, Typ 2C (CDG2C)(SLC35C1) * SLC35C1 32 Glykosylierungsdefekt, Typ 2D (CDG2D)(B4GALT1) * B4GALT1 18

19 33 Glykosylierungsdefekt, Typ 2E (CDG2E)(COG7) * COG7 34 Glykosylierungsdefekt, Typ 2F (CDG2F)(SLC35A1) * SLC35A1 35 Glykosylierungsdefekt, Typ 2G (CDG2G) (COG1) * COG1 36 Glykosylierungsdefekt, Typ 2H (CDG2H) (COG8) * COG8 37 Krabbe Disease (OMIM ) (Genetic)*(OMIM ) GALC 38 Leukoencephalopathies mit Beteiligung von Hirnstamm/Rückenmark und Laktaterhöhung (LBSL) (DARS2) DARS2 39 Leucoencephalopathies Vanishing White Matter (VWM) (EIF2B1, EIF2B2, EIF2B3, EIF2B4,EIF2B5)EIF2B1, EIF2B2,EIF2B3, EIF2B4,EIF2B5 40 Megalenzephale Cystic Leukoencephalopathies (MLC1) MLC1 41 MERRF (Mitochondrial, MTTK, MTTL1, MTTH,MTTS1, MTTS2, MTTF)Mitochondrial, MTTK,MTTL1, MTTH,MTTS1, MTTS2,MTTF 42 Metachromatic Leukodystrophy (MLD) *(Arylsulphatase A Def. ARSA) ARSA 43 Metachromatic Leukodystrophy, Saposin B Defizienz * (PSAP) PSAP 44 MultipleSulfataseDefizienz (MSD) (SUMF1) SUMF1 45 NiemannPick Disease, type C1 (NPC1) (OMIM ) * (NPC1)(OMIM ) NPC1 46 Osteodysplasie, lipomembranöse polyzystischesklerosierende Leukoencephalopathies (PLOSL)(TYROBP; TREM2) TYROBP; TREM2 47 Osteodysplasie, lipomembranöse polyzystischesklerosierende Leukoencephalopathies (PLOSL)(TYROBP; TREM2) TYROBP 48 Osteodysplasie, lipomembranöse polyzystischesklerosierende Leukoencephalopathies (PLOSL)(TYROBP; TREM2) TREM2 49 PelizaeusMerzbacherKrankheit (PMD) (PLP1) PLP1 50 PelizaeusMerzbacherlikeKrankheit (PMLD1)(GJA12) GJA12 51 Phosphoglycerate Dehydrogenase Defizienz (PHGDH) PHGDH 52 SialinsäureSpeicherkrankheit (SLC17A5) SLC17A5 53 SjogrenLarsson Syndrom (SLS) (ALDH3A2) ALDH3A2 19

20 54 Tuberöse Hirnsklerose (TSC1, TSC2) TSC1, TSC2 55 Tuberöse Hirnsklerose (TSC1) TSC1 56 Tuberous Sclerosis1 (OMIM )(OMIM ) TSC2 57 Waardenburg Syndrom / Hirschsprung Krankheit (PCWH) (SOX10) SOX10 58 Zellweger Syndrom (ZS) (PEX1, PEX2, PEX3,PEX5, PEX6, PEX12, PEX14, PEX26)PEX1, PEX2, PEX3,PEX5, PEX6, PEX12,PEX14, PEX26 59 Zerebrotendinöse Xanthomatose (CYP27A1) CYP27A Muscle disorders and familiar ALSdiseases 1 Amyotrophe Lateralsklerose 2 (ALS2) (Alsin) Alsin 2 Amyotrophe Lateralsklerose 4 (ALS4) (SETX) SETX 3 Amyotrophe Lateralsklerose 8 (ALS8) (VAPB) VAPB 4 Amyotrophe Lateralsklerose 10 (ALS10)(TARDBP) TARDBP 5 LimbGirdle Muscular Dystrophy, Type 1A, AD (LGMD1A) (OMIM ) (OMIM ) MYOT 6 Spheroid Body Myopathy (OMIM ) (OMIM ) MYOT 7 Myotilinopathy (OMIM ) (OMIM ) MYOT 8 Gliedergürtelmuskeldystrophie, AD, Typ 1B (LGMD1B) (Lamin A/C, LMNA) Lamin A/C, LMNA 9 Gliedergürtelmuskeldystrophie, AD, Typ 1C (LGMD1C) (Caveolin 3, CAV3) Caveolin 3, CAV3 10 Gliedergürtelmuskeldystrophie, AR, Typ 2A (LGMD2A) (Calpain 3, CAPN3) Calpain 3, CAPN3 11 Gliedergürtelmuskeldystrophie, AR, Typ 2B (LGMD2B) (Dysferlin, DYSF) Dysferlin, DYSF 12 Sarcoglycan, Gliedergürtelmuskeldystrophie, AR, Typ 2C (LGMD2C) (Sarcoglycan, Gamma, SGCG) Gamma,SGCG 13 Sarcoglycan, Gliedergürtelmuskeldystrophie, AR, Typ 2D (LGMD2D) (Sarcoglycan, Alpha, SGCA) Alpha,SGCA 14 Sarcoglycan, Beta, Gliedergürtelmuskeldystrophie, AR, Typ 2E (LGMD2E) (Sarcoglycan, Beta, SGCB) SGCB Sarcoglycan, 15 Gliedergürtelmuskeldystrophie, AR, Typ 2F (LGMD2F) (Sarcoglycan, Delta, SGCD) Delta,SGCD 20

21 16 Gliedergürtelmuskeldystrophie, AR, Typ 2G (LGMD2G) (TitinCap, TCAP) TitinCap, TCAP 17 Muscular dystrophy, limbgirdle, type 2H (LGMD2H) (OMIM )(OMIM ) TRIM32 18 Fukutin Related Gliedergürtelmuskeldystrophie, AR, Typ 2I (LGMD2I) (FukutinRelated Protein, FKRP) Protein, FKRP 19 Gliedergürtelmuskeldystrophie, AR, Typ 2J (LGMD2J) (Titin, TTN) Titin, TTN 20 Gliedergürtelmuskeldystrophie, AR, Typ 2K (LGMD2K) (Protein OMannosyltransferase 1, POMT1)Protein Omannosyltransferas e 1, POMT1 21 Muskeldystrophie, fazioskapulohumeral (FSHD1A) (FRG1) FRG1 Muskeldystrophie, kongenital, merosinpositiv (FKRP) FKRP 22 Muskeldystrophie, okulopharyngeal (OPMD)(PABPN1) (FL) PABPN1 23 Muskelatrophie, proximal, spinal, Typ 1, 2, 3, 4 (SMA I, II, III, IV) (WerdnigHofmann SMN1,BIRC1 [NAIP])WerdnigHofmann SMN1, BIRC1 [NAIP] 24 Muskeldystrophie, Typ Fukuyama (FCMD)(FKTN) FKTN 2.8. Dementia 1 AlzheimerKrankheit, familiäre (FAD1) (APP) APP 2 AlzheimerKrankheit, familiäre (FAD3) (PSEN1) PSEN1 3 AlzheimerKrankheit, familiäre (FAD4) (PSEN2) PSEN2 4 CreutzfeldtJakobKrankheit (CJD) (PRNP) PRNP 5 GerstmannSträusslerScheinkerSyndrom (GSD) (PRNP) PRNP 6 Fatale familiäre Insomnie (FFI) (PRNP) PRNP 7 Frontotemporale Demenz (GRN, MAPT) GRN, MAPT 8 Frontotemporal lobar degeneration with ubiquitinpositive inclusions (FTLDU) (OMIM ) (OMIM ) GRN 9 Frontotemporal Dementia (FTD) (OMIM ) (OMIM ) MAPT 10 PraderWilliSyndrom / AngelmannSyndrom (Chr.region 15q11q13, Methylationtest;UBE3A Methylationtest;UBE3A)Chr.region15q11q13, 3. Ophthalmological disorders 21

22 1 AlströmSyndrom (ALMS1) ALMS1 2 Aniridie, Typ 2 (AN2) (PAX6) PAX6 3 BestKrankheit (VMD) (BEST1) BEST1 4 Fundus Favimaculatus (FFM) (ABCA4, PRPH2) ABCA4, PRPH2 5 Fundus Favimaculatus (FFM) (ABCA4) ABCA4 6 Fundus Favimaculatus (FFM) (PRPH2) PRPH2 7 Glaukom, hereditäres (CYP1B1) CYP1B1 8 Hornhautdystrophie, Avellino Typ (CDA)(TGFB1) TGFB1 9 Hornhautdystrophie, Bowman Layer, Typ 1 (CDB1) (TGFB1) TGFB1 10 Lowe Syndrom (OCRL) OCRL 11 Mikrophthalmie, isoliert, Typ 3 (MCOP3) (RAX) RAX 12 Mikrophthalmie, syndromal, Typ 3 (MCOPS3)(SOX2) SOX2 13 Netzhautdystrophie Typ Bothnia (RLBP1) RLBP1 14 Netzhautdystrophie Typ Bothnia1A (GLC1A)(MYOC) MYOC 15 Netzhautdystrophie Typ Bothnia1E (GLC1E)(OPTN) OPTN 16 Netzhautdystrophie Typ Bothnia1G (GLC1G)(WDR36) WDR36 17 OptikusNeuropathie Typ Leber (LOHN)(Mitochondrial, MTND4, MTND4L, MTND1,MTND, MTCO3, MTND5, MTND2, MTCO1,MTATP6) 18 Retinale Dystrophie (AD) Screening (RHO,RGR, PDE6B, GUCY2D, HPRP3, PRPF31, PRPF8) 19 Retinale Dystrophie (AR) Screening (RPE65,LRAT, ABCA4, RHO, PDE6A, PDE6B, CNGA1,CNGB1, SAG, GUCY2D, MERTK, CRB1, USH2A) 20 RiegerSyndrom (PITX2) PITX2 21 StargardtKrankheit 1 (STGD1) (ABCA4; CNGB3) ABCA4; CNGB3 22 StargardtKrankheit 1 (STGD1) (ABCA4) ABCA4 23 StargardtKrankheit 1 (STGD1) (ABCA4) ABCA4 24 StargardtKrankheit 1 (STGD1) (CNGB3) CNGB3 25 StargardtKrankheit 3 (STGD3) (ELOVL4) ELOVL4 22

23 26 SticklerSyndrom, AR (COL9A1) COL9A1 27 SticklerSyndrom 1 (STL1) (COL2A1) COL2A1 28 SticklerSyndrom 2 (STL2) (COL11A1) COL11A1 29 SticklerSyndrom 3 (STL3) (COL11A2) COL11A2 30 WagnerKrankheit (WGN1) (CSPG2) CSPG2 31 WeillMarchesaniSyndrom, AD (FBN1) FBN1 32 WeillMarchesaniSyndrom, AR (ADAMTS10) ADAMTS10 33 WolframSyndrom 1 (WFS1) WFS1 34 WolframSyndrom 2 (ZCD2) ZCD2 4. ENSdiseases 1 AlportSyndrom, AR (COL4A3, COL4A4) COL4A3, COL4A4 2 AlportSyndrom, Xchromosomal (COL4A5) COL4A5 3 Taubheit Dystonie Optikusatrophie (TIMM8A) TIMM8A 4 WolframSyndrom 1 (WFS1) WFS1 5 WolframSyndrom 2 (ZCD2) ZCD2 Nichtsyndromale, autosomal recessive Schwerhörigkeit (AR) Deafness 1 Schwerhörigkeit, Typ 1 (DFNB1) (GJB2; GJB6) GJB2; GJB6 2 Schwerhörigkeit, Typ 1 (DFNB1) (GJB2) GJB2 3 Deafness, autosomal recessive 1B (DFNB1B)(OMIM ) (OMIM ) GJB6 4 Schwerhörigkeit, Typ 3 (DFNB3) (MYO15A) MYO15A 5 Schwerhörigkeit, Typ 6 (DFNB6) (TMIE) TMIE 6 Schwerhörigkeit, Typ 7 (DFNB7, DFNB11)(TMC1) TMC1 7 Schwerhörigkeit, Typ 9 (DFNB9) (OTOF) OTOF 8 Schwerhörigkeit, Typ 16 (DFNB16) (STRC) STRC 9 Schwerhörigkeit, Typ 18 (DFNB18) (USH1C) USH1C 10 Schwerhörigkeit, Typ 28 (DFNB28) (TRIOBP) TRIOBP 23

24 11 Schwerhörigkeit, Typ 30 (DFNB30) (MYO3A) MYO3A Nichtsyndromale, autosomal dominant Deafness - Schwerhörigkeit (AD) 1 Schwerhörigkeit, Typ 1 (DFNA1) (DIAPH1) DIAPH1 2 Schwerhörigkeit, Typ 2 (DFNA2) (GJB3, KCNQ4) GJB3, KCNQ4 3 Schwerhörigkeit, Typ 2 (DFNA2) (GJB3) GJB3 4 Schwerhörigkeit, Typ 2 (DFNA2) (KCNQ4) KCNQ4 5 Schwerhörigkeit, Typ 3 (DFNA3) (GJB2, GJB6) GJB2, GJB6 6 Schwerhörigkeit, Typ 3 (DFNA3) (GJB2) GJB2 7 Deafness, autosomal dominant 3B (DFNA3B)(OMIM ) (OMIM ) GJB6 8 Ectodermal dysplasia, hidrotic, autosomaldominant (OMIM )(OMIM ) GJB6 9 Schwerhörigkeit, Typ 4 (DFNA4) (MYH14) MYH14 10 Schwerhörigkeit, Typ 5 (DFNA5) (DFNA5) DFNA5 11 Schwerhörigkeit, Typ 6 (DFNA6, DFNA14,DFNA38) (WFS1) WFS1 12 Schwerhörigkeit, Typ 9 (DFNA9) (COCH) COCH 13 Schwerhörigkeit, Typ 10 (DFNA10) (EYA4) EYA4 14 Schwerhörigkeit, Typ 11 (DFNA11) (MYO7A) MYO7A 15 Schwerhörigkeit, Typ 12 (DFNA12, DFNA8)(TECTA) TECTA 16 Schwerhörigkeit, Typ 13 (DFNA13) (COL11A2) COL11A2 17 Schwerhörigkeit, Typ 15 (DFNA15) (POU4F3) POU4F3 18 Schwerhörigkeit, Typ 17 (DFNA17) (MYH9) MYH9 19 Schwerhörigkeit, Typ 22 (DFNA22) (MYO6) MYO6 20 Schwerhörigkeit, Typ 23 (DFNA23) (SIX1) SIX1 21 Schwerhörigkeit, Typ 36 (DFNA36) (TMC1) TMC1 22 Schwerhörigkeit, Typ 44 (DFNA44) (CCDC50) CCDC50 5. Bone diseases 1 Arthrogrypose, distal, Typ 1 (TPM2) TPM2 2 Arthrogrypose, distal, Typ 2A ( MYH3) MYH3 24

25 3 Arthrogrypose, distal, Typ 2B (TNNT3, TNNI2,MYH3) TNNT3, TNNI2, MYH3 4 Arthrogrypose, distal, Typ 2B (TNNT3) TNNT3 5 Arthrogrypose, distal, Typ 2B (TNNI2) TNNI2 6 Arthrogrypose, distal, Typ 2B (MYH3) MYH3 7 MPSScreening* (IDUA, IDS, SGSH, NAGLU,HGSNAT, GNA, GALNS, GLB1, ARSB, GUSB,HYAL1) 8 Mukopolysaccharidose Typ 4a (MPS IVa, Morquio Syndrom A)* (GALNS) GALNS 9 Osteogenesis imperfecta, type I (OMIM )(OMIM ) COL1A1 10 Caffey Disease (OMIM )(OMIM ) COL1A1 11 Osteogenesis imperfecta, type IIA (OMIM )(OMIM ) COL1A1 12 Osteogenesis imperfecta, type III (OMIM ) COL1A1 13 Osteogenesis imperfecta, type IV (OMIM ) COL1A1 14 EhlersDanlos Syndrome, type VII, autosomal dominant (OMIM ) (OMIM ) COL1A1 15 Osteogenesis imperfecta, type IV (OMIM ) (OMIM ) COL1A1 16 EhlersDanlos Syndrome, type VII, autosomal dominant (OMIM )(OMIM ) COL1A1 17 Osteogenesis imperfecta, Typ 2 A (COL1A2) COL1A2 6. Cardiololgical diseases 1 Danon, Xchromosomal Cardiomyopathy and Myopathy (LAMP2) LAMP2 2 Cardiomyopathy, dilated (CMD) (MYBPC3) MYBPC3 3 Cardiomyopathy, dilated, 1A (CMD1A)(LMNA) LMNA 4 Cardiomyopathy, dilated, 1D (CMD1D)(TNNT2) TNNT2 5 Cardiomyopathy, dilated, 1G (CMD1G) (TTN) TTN 6 Cardiomyopathy, dilated, 1R (CMD1R)(ACTC1) ACTC1 7 Cardiomyopathy, dilated, 1S (CMD1S)(MYH7) MYH7 8 Cardiomyopathy, dilated, 1Y (CMD1Y) (TPM1) TPM1 9 Cardiomyopathy, dilated, 2A (CMD2A) (OMIM ) (OMIM ) TNNI3 10 Cardiomyopathy, familial hypertrophic, 1 (CMH1) (MYH7) MYH7 11 Cardiomyopathy, familial hypertrophic, 2 (CMH2) (TNNT2) TNNT2 25

26 12 Cardiomyopathy, familial hypertrophic, 3 (CMH3) (TPM1) TPM1 13 Cardiomyopathy, familial hypertrophic, 4 (CMH4) (MYBPC3) MYBPC3 14 Cardiomyopathy, familial hypertrophic, 7, included (CMH7, included) (OMIM ) (OMIM ) TNNI3 15 Cardiomyopathy, familial restrictive, 1 (RCM1)(OMIM ) (OMIM ) TNNI3 16 Cardiomyopathy, familial hypertrophic, 8 (CMH8) (MYL3) MYL3 17 Cardiomyopathy, familial hypertrophic, 9 (CMH9) (TTN) TTN 18 Cardiomyopathy, familial hypertrophic, 10 (CMH10) (MYL2) MYL2 19 Cardiomyopathy, familial hypertrophic, 11 (CMH11) (ACTC1) ACTC1 20 Cardiomyopathy, familial hypertrophic, 12 (CMH12) (CSRP3) CSRP3 21 Cardiomyopathy, familial hypertrophic, mit WolfParkinsonWhite Syndrom (PRKAG2) PRKAG2 7. Nephrological disorders 1 Alport Syndrom, AR (COL4A3, COL4A4) COL4A3, COL4A4 2 Alport Syndrom, AR (COL4A3) COL4A3 3 Alport Syndrom, AR (COL4A4) COL4A4 4 Alport Syndrom Xchromosomal (COL4A5) COL4A5 5 BardetBiedlSyndrom (BBS1) BBS1 6 Cystinose (CTNS) CTNS 7 Diabetes insipidus, nephrogen, Xchromosomal (AVPR2) AVPR2 8 Diabetes insipidus, nephrogen, autosomal (AQP2) AQP2 9 EpsteinSyndrom (MYH9) MYH9 10 GitelmanSyndrom (SLC12A3) SLC12A3 11 KallmannSyndrom (KAL1) KAL1 12 Liddle Syndrom (SCNN1B, SCNN1G) SCNN1B, SCNN1G 13 Liddle Syndrom (SCNN1B) SCNN1B 14 Liddle Syndrom (SCNN1G) SCNN1G 15 Lowe Syndrom (OCRL) OCRL 26

27 16 MeckelSyndrom Typ 1 (MKS1) MKS1 17 MeckelSyndrom Typ 3 (TMEM67) TMEM67 18 MeckelSyndrom Typ 4 (CEP290) CEP Nephronophthise, AD (UMOD) UMOD 20 Nephronophthise, AR, Typ 1 (NPHP1) NPHP1 21 Nephronophthise, AR, Typ 2 (INVS) INVS 22 Nephrotic Syndrom, familiär, idiopathic, steroidresistant, AD (ACTN4) ACTN4 23 Nephrotic Syndrom, congenital, Finnish Type (NPHS1) NPHS1 24 Nephrotic Syndrom, familiär, idiopathic, steroidresistant, AR (NPHS2) NPHS2 25 Nierenkrankheit ( Kidney Dis. ), polycystic, AD (PKD1, PKD2) PKD1, PKD2 26 Nierenkrankheit,( Kidney Dis. ) polycystic, AD (PKD1) PKD1 27 Nierenkrankheit,( Kidney Dis. ) polycystic, AD (PKD2) PKD2 28 Nierenkrankheit,( Kidney Dis. ) polycystic, AR (PKHD1) PKDH1 29 Nierenzellkarzinom ( Renal Carcinoma ), familial papillary (MET) MET 30 Rickets, Vitamin Dresistant, AD (FGF23) FGF23 31 Rickets, Vitamin Dresistant, AR (DMP1) DMP1 32 Rickets, Vitamin Dresistant, Xchromosomal (PHEX) PHEX 33 Vesikoureterale Re%ux 2 (ROBO) ROBO2 34 Cystinuria (SLC3A1, SLC7A9) SLC3A1, SLC7A9 35 Cystinuria (SLC3A1) SLC3A1 36 Cystinuria (SLC7A9) SLC7A9 8. Oncological disorders 1 AlagilleSyndrom 1 (JAG1) JAG1 2 AlagilleSyndrom 2 (NOTCH2) NOTCH2 3 Alpha1AntitrypsinDefi zienz (SERPINA 1) SERPINA 4 APCassoziierte Polyposis (FAP) (APC) APC 5 BeckwithWiedemannSyndrom (CDKN1C,NSD1)(OMIM ) CDKN1C, NSD1 27

28 6 BeckwithWiedemannSyndrom (CDKN1C) CDKN1C 7 BeckwithWiedemann Syndrome (BWS) (OMIM )(OMIM ) NSD1 8 Weaver Syndrome (WSS) (OMIM ) (OMIM ) NSD1 9 Breast Cancer, familial (BRCA1, BRCA2) BRCA1, BRCA2 10 Breast Cancer, familial (BRCA1) BRCA1 11 Breast Cancer, familial (BRCA2) BRCA2 12 KiRAS Gen Sequenzierung (KRAS) KRAS 13 Kolonkarzinom, Typ 1, hereditär, nichtpolypös (HNPCC1) (MSH2) MSH2 14 Kolonkarzinom, Typ 2, hereditär, nichtpolypös (HNPCC2) (MLH1) MLH1 15 Kolonkarzinom, Typ 3, hereditär, nichtpolypös (HNPCC3) (PMS1) PMS1 16 Kolonkarzinom, Typ 4, hereditär, nichtpolypös (HNPCC4) (PMS2) PMS2 17 Kolonkarzinom, Typ 5, hereditär, nichtpolypös (HNPCC5) (MSH6) MSH6 18 Lymphoproliferative Erkrankung, X chromosomal (SH2D1A) SH2D1A 19 Magenkarzinom, familiär (CDH1) CDH1 20 Multiple Endocrine Neoplasie Typ 1 (MEN1) MEN1 21 Multiple Endocrine Neoplasie Typ 2 (RET) RET 22 MYHassoziierte Polyposis (MUTYH) MUTYH 23 Nierenzellkarzinom, familiär, papillär (MET) MET 24 Pancreatitis, hereditary chronic (HCP) (PRSS1,SPINK1, CFTR, CTRC) PRSS1, SPINK1, CFTR,CTRC 25 Pancreatitis, hereditary chronic (HCP) (PRSS1) PRSS1 26 Pancreatitis, hereditary chronic (HCP)(SPINK1) SPINK1 27 Pancreatitis, hereditary chronic (HCP) (CFTR,CTRC) CFTR 28 Pancreatitis, hereditary chronic (HCP) (CTRC) CTRC 29 PeutzJeghers Syndrom (STK11) STK11 30 Prostate Cancer, hereditary (ELAC2, RNASEL,BRCA2, SRD5A2) ELAC2, RNASEL,BRCA2, 28

29 SRD5A2 31 Prostate Cancer, hereditary (ELAC2) ELAC2 32 Prostate Cancer, hereditary (RNASEL) RNASEL 33 Prostate Cancer, hereditary (BRCA2) BRCA2 34 Prostate Cancer, hereditary (SRD5A2) SRD5A2 35 ShwachmanDiamondSyndrom (SDS) (SBDS) SBDS 36 Sotos Syndrome (OMIM )(OMIM ) NSD1 37 Stromatumor, gastrointestinal (GIST) (KIT) KIT 38 Stromatumor, gastrointestinal (GIST) (PDGFRA) PDGFRA 9. others 1 Nemaline Myopathy 3 (NEM3) (ACTA1) ACTA1 2 Brugada Syndrom 1 SCN5A SCN5A 3 DUCHENNE MUSCULAR DYSTROPHY and BECKER MUSCULAR DYSTROPHY DMD 4 Neuraminidase Deficiency NEU1 5 Congenital stationary Nightblindness Typ 2A (CACNA1F) CACNA1F 6 KallmannSyndrom 3 (PROKR2) PROKR2 7 KallmannSyndrom 4 (PROK2) PROK2 8 Hypogonadotropic isolated Hypogonadism (GPR54) GPR54 9 McKusickKaufmanSyndrom (MKKS) MKKS 10 DIARRHEA 2, WITH MICROVILLOUS ATROPHY; DIAR2 MYO5B 11 Retinal Dystrophy Screen (AR) a RPE65 RPE65 b LRAT LRAT c ABCA4 ABCA4 d RHO RHO e PDE6A PDE6A f PDE6B PDE6B 29

30 g CNGA1 CNGA1 h CNGAB1 CNGAB1 i SAG SAG j GUCY2D GUCY2D k MERTK MERTK l CRB1 CRB1 m USH2A USH2A 12 Retinal Dystrophy Screen (AD) a RHO RHO b RGR RGR c PDE6B PDE6B d GUCY2D GUCY2D e HPRP3 HPRP3 f PRPF31 PRPF31 g PRPF8 PRPF8 13 CMT autosomal recessive a CMT2B1 (LMNA) LMNA b CMT2K / CMT4A (GDAP1) GDAP1 c CMT4B1 (MTMR2) MTMR2 d CMT4B2 (SBF2) SBF2 e CMT4C (SH3TC2) SH3TC2 f CMT4D (NDRG1) NDRG1 g CMT4F (PRX) PRX 30

31 For many other IEMs we can arrange Prenatal Diagnosis through our national international collaborators. Kindly send the clinical details, especially of the index case to discuss further. The estimate of expenses can be generated only after a proper Index case evaluation and carrier detection of the couple is completed. Instructions for sending samples: - 1. Urine for GC-MS (Organic Acids): Atleast 20 ml of urine (liquid) should be collected in a sterile container. If only GC-MS is required, add few drops of chloroform or keep in the deep fridge. If HPLC- Ur. Orotic acid or Purine / Pyrimidines are required in addition to GC-MS for Organic acids please do not add Chloroform. After performing Orotic acid, we shall add Chloroform. Chloroform interferes with analysis of Orotic acid and Purine / Pyrimidines. 2. Tandem Mass Spectrometry (MS-MS on blood):- Blood should be collected in Heparinised tube or can be plotted directly from scalp vein on S & S 903 filter paper. Please keep the paper horizontal on a clean surface and put 2 3 drops of blood for one spot of about half inch circle. The blood must soak through and should be seen from the other side exactly like the spot seen from front side. Allow the paper to dry in horizontal position for 3 hrs atleast and then place the papers in a plastic envelope. For one patent we must have two papers (atleast 8 spots of good size). If preparing paper seems difficult in your busy practice, please collect 2 ml blood in a heparin ( green top ) vaccuatainer and keep in the butter compartment of fridge till you send it to our lab ( preferably dispatch the same day ). 3. HPLC Aminoacids / Phe-Tyr-Meth etc.:- Collect 3 ml blood in an EDTA tube and centrifuge the tune immediately (within 15 minutes). Separate the plasma and keep in deep fridge (- 20 C) or send it immediately. Additionally collect two filter papers (8 spots) in case confirmation with MS-MS is required or other tests required. 4. For critically ill new borns:- Send 20 ml urine, 3 ml Heparinised blood, 3 ml EDTA blood and 2 ml clear serum. If you have already done CSF, please send 2 ml of clear non hemorrhagic serum as well. For better interpretation we request for following reports along with samples: - Ammonia, Lactate, BSL, Uric Acid and ABG with Electrolytes where ever indicated (especially in critically ill newborns). 31

32 We would strongly recommend a detailed history with clinical summary for all samples referred for metabolic work-up. In absence of history no interpretation will be / can be given. For any special tests or DNA studies please discuss with Dr. Anil B Jalan - (Mobile ) before collecting samples. Payment terms: - All the samples must accompany a DD in favor of NIRMAN payable in Mumbai. In absence of DD, the sample will not be processed. We shall not accept DD in the name of Dr. Anil Jalan or any bank transfer. Thanking you, Paediatric Geneticist 32

33 Useful contact numbers Mobile # Office # 1 Dr. Anil B. Jalan NIRMAN Mr. Sushil Upadhyay ( Manager ) NIRMAN Mrs. Nutan Shirsat ( Lab Supervisor ) NIRMAN Mr. Harshal Telawane ( Accountant ) NIRMAN